Canonical Allele Identifier: CA1950112577
Gene: CAVIN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319282C= , CM000673.2:g.6319282C= GRCh38
NC_000011.9:g.6340512C= , CM000673.1:g.6340512C= GRCh37
NC_000011.8:g.6297088C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.667G= MANE Select ENSP00000307292.3:p.Glu223=
ENST00000303927.3:c.667G= ENSP00000307292.3:p.Glu223=
ENST00000524852.1:n.453G=
ENST00000530979.1:c.763G= ENSP00000432047.1:p.Glu255=
ENST00000532354.1:n.689G=
NM_145040.2:c.667G= NP_659477.2:p.Glu223=
XR_930997.1:n.720+1062C=
XR_242848.4:n.142C=
NM_145040.3:c.667G= MANE Select NP_659477.2:p.Glu223=